rs7238987
This is a splice region variant variant in the CYB5A gene.
▶ClinVar annotation
not provided; Colorectal cancer; Thymoma; Cholangiocarcinoma; not specified; Adrenocortical carcinoma, hereditary
View on ClinVar →▶Research that mentions this SNP (1)
▶Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetesAssociationN=7,667Ke Huang et al.(2014)· Obesity
Whole exome sequencing in 177 Pima Indians identified rs7238987 in CYB5A associated with body fatness (p=7.0×10⁻⁶) and a novel RNF10 variant (R151H) associated with adiposity. Both SNPs and variants increased risk for Type 2 Diabetes (rs7238987: OR=1.13, p=0.01; RNF10: OR=1.49, p=9.5×10⁻³), with effects mediated through body mass index. CYB5A encodes a component of stearoyl-CoA desaturase, while RNF10's role in obesity was supported by knockout mouse data.
About CYB5A
The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
View all CYB5A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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